Canonical Allele Identifier: CA467821216

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 473385
• ClinVar RCV Id: RCV001722511 ; RCV002270654 ; RCV002270655
• dbSNP Id: rs759060691
• gnomAD v2: 9-138678162-C-G
• gnomAD v4: 9-135786316-C-G
• MyVariant Identifiers: chr9:g.138678162C>G (hg19) ; chr9:g.135786316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786316C>G , CM000671.2:g.135786316C>G	GRCh38
NC_000009.11:g.138678162C>G , CM000671.1:g.138678162C>G	GRCh37
NC_000009.10:g.137817983C>G	NCBI36
NG_033070.1:g.89132C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3297C>G MANE Select	ENSP00000360822.2:p.Pro1099=
ENST00000674572.1:c.3138C>G	ENSP00000501742.1:p.Pro1046=
ENST00000675090.1:c.3045C>G	ENSP00000501833.1:p.Pro1015=
ENST00000675399.1:c.3045C>G	ENSP00000501932.1:p.Pro1015=
ENST00000676421.1:c.3054C>G	ENSP00000502322.1:p.Pro1018=
ENST00000263604.5:c.3198C>G	ENSP00000263604.4:p.Pro1066=
ENST00000371757.6:c.3297C>G	ENSP00000360822.2:p.Pro1099=
ENST00000460750.5:c.*2907C>G	ENSP00000418777.1:n.*2907C>G
ENST00000486577.6:c.3180C>G	ENSP00000417578.3:p.Pro1060=
ENST00000487664.5:c.3297C>G	ENSP00000417851.2:p.Pro1099=
ENST00000488444.6:c.3219C>G	ENSP00000419007.3:p.Pro1073=
ENST00000490355.6:c.3234C>G	ENSP00000418003.3:p.Pro1078=
ENST00000490363.3:n.3982C>G
ENST00000491806.6:c.3240C>G	ENSP00000419086.3:p.Pro1080=
ENST00000628528.2:c.3162C>G	ENSP00000486374.1:p.Pro1054=
ENST00000630792.2:c.3132C>G	ENSP00000486486.1:p.Pro1044=
ENST00000631073.2:c.3240C>G	ENSP00000486130.1:p.Pro1080=
NM_001272003.1:c.3162C>G	NP_001258932.1:p.Pro1054=
NM_020822.2:c.3297C>G	NP_065873.2:p.Pro1099=
XM_011518877.1:c.3432C>G	XP_011517179.1:p.Pro1144=
XM_011518878.1:c.3441C>G	XP_011517180.1:p.Pro1147=
XM_011518879.1:c.3432C>G	XP_011517181.1:p.Pro1144=
XM_011518880.1:c.3198C>G	XP_011517182.1:p.Pro1066=
XM_011518881.1:c.2787C>G	XP_011517183.1:p.Pro929=
XM_011518877.3:c.3432C>G	XP_011517179.1:p.Pro1144=
XM_011518878.3:c.3441C>G	XP_011517180.1:p.Pro1147=
XM_011518879.3:c.3432C>G	XP_011517181.1:p.Pro1144=
XM_011518881.3:c.2787C>G	XP_011517183.1:p.Pro929=
XM_017014931.1:c.3231C>G	XP_016870420.1:p.Pro1077=
XM_017014932.1:c.3054C>G	XP_016870421.1:p.Pro1018=
XM_017014933.1:c.2787C>G	XP_016870422.1:p.Pro929=
XM_024447617.1:c.2787C>G	XP_024303385.1:p.Pro929=
XM_024447618.1:c.2787C>G	XP_024303386.1:p.Pro929=
NM_020822.3:c.3297C>G MANE Select	NP_065873.2:p.Pro1099=
NM_001272003.2:c.3162C>G	NP_001258932.1:p.Pro1054=